| Autor: |
Singh, Swati, Nampoothiri, Sheela, Narayanan, Dhanya Lakshmi, Chaudhry, Chakshu, Salvankar, Sandesh, Girisha, Katta M. |
| Zdroj: |
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-5, 5p |
| Abstrakt: |
Orofaciodigital syndrome is a distinctive subtype of skeletal ciliopathies. Disease-causing variants in the genes encoding the CPLANE complex result in a wide variety of skeletal dysplasia with disturbed ciliary functions. The phenotypic spectrum includes orofaciodigital syndrome and short rib polydactyly syndrome. FUZ, as a part of the CPLANE complex, is involved in intraflagellar vesicular trafficking within primary cilia. Previously, the variants, c.98_111+9del and c.851G>T in FUZwere identified in two individuals with a skeletal ciliopathy, manifesting digital anomalies (polydactyly, syndactyly), orofacial cleft, short ribs and cardiac defects. Here, we present two novel variants, c.601G>A and c.625_636del in biallelic state, in two additional subjects exhibiting phenotypic overlap with the previously reported cases. Our findings underscore the association between biallelic loss of function variants in FUZand skeletal ciliopathy akin to orofaciodigital syndrome. |
| Databáze: |
Supplemental Index |
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